𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of three novel polymorphisms in theMJD1gene and study of their frequency in the Portuguese population

✍ Scribed by M. do Carmo Costa; J. Sequeiros; P. Maciel


Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
67 KB
Volume
47
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Wolfram syndrome in French population: C
✍ Fabienne Giuliano; Sylvie Bannwarth; Sophie Monnot; Aline Cano; Brigitte Chabrol πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 310 KB πŸ‘ 1 views

Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identif